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36 Publications

2020 | Preprint | IST-REx-ID: 7800   OA
Morandell, J., Schwarz, L. A., Basilico, B., Tasciyan, S., Nicolas, A., Sommer, C. M., … Novarino, G. (n.d.). Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. Cold Spring Harbor Laboratory.
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2020 | Journal Article | IST-REx-ID: 7488   OA
Latorre-Pellicer, A., Ascaso, Á., Trujillano, L., Gil-Salvador, M., Arnedo, M., Lucia-Campos, C., … Pié, J. (2020). Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes. International Journal of Molecular Sciences, 21(3), 1042. https://doi.org/10.3390/ijms21031042
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2020 | Journal Article | IST-REx-ID: 7957   OA
Parenti, I., Garcia Rabaneda, L. E., Schön, H., & Novarino, G. (n.d.). Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. https://doi.org/10.1016/j.tins.2020.05.004
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2020 | Journal Article | IST-REx-ID: 7149
Avagliano, L., Parenti, I., Grazioli, P., Di Fede, E., Parodi, C., Mariani, M., … Massa, V. (2020). Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics, 97(1), 3–11. https://doi.org/10.1111/cge.13674
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2020 | Journal Article | IST-REx-ID: 7586   OA
Weinert, S., Gimber, N., Deuschel, D., Stuhlmann, T., Puchkov, D., Farsi, Z., … Jentsch, T. J. (n.d.). Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal, e103358. https://doi.org/10.15252/embj.2019103358
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2020 | Journal Article | IST-REx-ID: 7877   OA
Parenti, I., Diab, F., Gil, S. R., Mulugeta, E., Casa, V., Berutti, R., … Wendt, K. S. (2020). MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports, 31(7), 107647. https://doi.org/10.1016/j.celrep.2020.107647
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2019 | Journal Article | IST-REx-ID: 105
Marsh, A., Novarino, G., Lockhart, P., & Leventer, R. (2019). CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. European Journal of Human Genetics, 27, 161–166. https://doi.org/10.1038/s41431-018-0231-2
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2019 | Journal Article | IST-REx-ID: 6896
Oliveira, B., Yahya, A. Ç., & Novarino, G. (2019). Modeling cell-cell interactions in the brain using cerebral organoids. Brain Research, 1724. https://doi.org/10.1016/j.brainres.2019.146458
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2019 | Journal Article | IST-REx-ID: 7414
Knaus, L., Tarlungeanu, D.-C., & Novarino, G. (2019). S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly. European Neuropsychopharmacology, 29(Supplement 6), S11. https://doi.org/10.1016/j.euroneuro.2019.09.039
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2019 | Journal Article | IST-REx-ID: 7415
Morandell, J., Nicolas, A., Schwarz, L. A., & Novarino, G. (2019). S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism. European Neuropsychopharmacology, 29(Supplement 6), S11–S12. https://doi.org/10.1016/j.euroneuro.2019.09.040
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2019 | Journal Article | IST-REx-ID: 6088
Traxl, A., Mairinger, S., Filip, T., Sauberer, M., Stanek, J., Poschner, S., … Langer, O. (2019). Inhibition of ABCB1 and ABCG2 at the mouse blood-brain barrier with marketed drugs to improve brain delivery of the model ABCB1/ABCG2 substrate [11C]erlotinib. Molecular Pharmaceutics, 16(3), 1282–1293. https://doi.org/10.1021/acs.molpharmaceut.8b01217
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2019 | Journal Article | IST-REx-ID: 6470
Éltes, T., Szoboszlay, M., Szigeti, M. K., & Nusser, Z. (2019). Improved spike inference accuracy by estimating the peak amplitude of unitary [Ca2+] transients in weakly GCaMP6f-expressing hippocampal pyramidal cells. Journal of Physiology, 597(11), 2925–2947. https://doi.org/10.1113/JP277681
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2018 | Thesis | IST-REx-ID: 395   OA
Tarlungeanu, D.-C. (2018). The branched chain amino acids in autism spectrum disorders . IST Austria. https://doi.org/10.15479/AT:ISTA:th_992
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2018 | Journal Article | IST-REx-ID: 456
Novarino, G. (2018). Zika-associated microcephaly: Reduce the stress and race for the treatment. Science Translational Medicine, 10(423). https://doi.org/10.1126/scitranslmed.aar7514
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2018 | Journal Article | IST-REx-ID: 691   OA
Marin Valencia, I., Novarino, G., Johansen, A., Rosti, B., Issa, M., Musaev, D., … Gleeson, J. (2018). A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features. Journal of Medical Genetics, 55(1), 48–54. https://doi.org/10.1136/jmedgenet-2017-104627
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2018 | Journal Article | IST-REx-ID: 546
Sacco, R., Cacci, E., & Novarino, G. (2018). Neural stem cells in neuropsychiatric disorders. Current Opinion in Neurobiology, 48(2), 131–138. https://doi.org/10.1016/j.conb.2017.12.005
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2018 | Journal Article | IST-REx-ID: 5888   OA
Tarlungeanu, D.-C., & Novarino, G. (2018). Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental & Molecular Medicine, 50(8). https://doi.org/10.1038/s12276-018-0129-7
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2018 | Journal Article | IST-REx-ID: 3   OA
Deliu, E., Arecco, N., Morandell, J., Dotter, C., Contreras, X., Girardot, C., … Novarino, G. (2018). Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. Nature Neuroscience, 21(12), 1717–1727. https://doi.org/10.1038/s41593-018-0266-2
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2017 | Journal Article | IST-REx-ID: 667
Novarino, G. (2017). The antisocial side of antibiotics. Science Translational Medicine, 9(387). https://doi.org/10.1126/scitranslmed.aan2786
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2017 | Journal Article | IST-REx-ID: 713   OA
Andergassen, D., Dotter, C., Wenzel, D., Sigl, V., Bammer, P., Muckenhuber, M., … Hudson, Q. (2017). Mapping the mouse Allelome reveals tissue specific regulation of allelic expression. ELife, 6. https://doi.org/10.7554/eLife.25125
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